SNP ID Clin Chr 03 pos Sequence Context AA Info Type rs121434597 Pathogenic, Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400] 46,898,691(+) CATCC(A/G)CATGC reference, missense rs121434598 Pathogenic, Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400] 46,902,542(+) AATCC(A/C)CGCTG reference,[…]
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